Ataxia

A safety analysis of the phase 3 MOXIe Part 2 trial (NCT0225435) highlighted the frequency and timing of TEAEs with omaveloxolone (Skyclarys; Biogen) treatment.

Despite not meeting its primary end point, treatment with GV1001 showed more promising results in patients with progressive supranuclear palsy-Richardson’s syndrome over a 24-week treatment period.

Overall, vatiquinone-treated patients demonstrated persistent effects on disease progression over a 144-week long-term period, leading to a future regulatory submission.

The orphan medicinal product designation given by the European Commission was based on findings produced in research funded by the United States Department of Defense.

This trial aims to explore the role of the noradrenergic system in behavioral and cognitive outcomes and could lead to new therapeutic strategies for managing PSP.

The approval follows phase 3 data that showed significant improvements in neurological symptoms and functional benefit over 12 weeks in patients with Niemann-Pick disease type C.

Zevra Therapeutics plans to immediately start its launch activities for arimoclomol, marketed as Miplyffa, which is anticipated to be commercially available in 8 to 12 weeks in the United States.

In the study, patients with spinocerebellar ataxia treated with troriluzole demonstrated statistically significant improvements at years 1 and 2 on the treatment.

Findings from a recent study analyzing 3 cohorts suggested that certain proteins in the cerebrospinal fluid may have potential as biomarkers or therapeutic targets in progressive supranuclear palsy.

The chief executive officer and chief medical officer at Quince Therapeutics talked about recent findings from the phase 3 ATTeST study assessing EryDex in pediatric patients with ataxia telangiectasia.

EryDex did not meet its primary end point possibly because of delays in treatment reducing the number of patients who received the agent, and different treatment effects based on age.

DT-216P2 shows promise in treating patients with Friedreich ataxia based on positive phase 1 trial results that indicated a significant increase in frataxin mRNA levels.

PTC Therapeutics has plans to submit a new drug application for vatiquinone, a small molecule inhibitor of 15-lipoxygenase in development for patients with Friedreich ataxia, in late 2024.

A recent review showed different fluid biomarkers were involved in neurodegeneration, oxidative stress, metabolism, microRNA and novel genes in spinocerebellar ataxia type 3.

Researchers detected annual changes in patients with preataxic and early ataxic spinocerebellar ataxia in brain MRI imaging, clinical scores, gait parameters, and retinal thickness.

According to a recent announcement, Larimar Therapeutics reported that all 7 sites of the open-label extension study were activated for assessing nomlabofusp in Friedreich ataxia.

LX2006 shows safety, tolerance, and significant improvements in cardiac biomarkers in FA cardiomyopathy, progressing to higher dose cohorts.

After following patients for more than 10 years, arrhythmias were considered the most important cardiac predictor of survival, with progressive neurologic disability and diabetes mellitus identified as further major contributors.

Larimar Therapeutics anticipates interim data from the open label extension study assessing nomlabofusp in patients with Friedreich Ataxia in the fourth quarter of 2024.

A recent study recognized anti-DAGLA autoantibodies in the cerebrospinal fluid of a small group of patients, suggesting that it could be a potential biomarker for diagnosing cerebellar ataxia.

Findings from a recent study suggest that the presence of negative myoclonus may serve as a diagnostic clue for progressive myoclonus ataxia, suggesting the presence of genetic disorders.

Recent preclinical findings revealed SBT-589's potential to treat cardiomyopathy in Friedreich ataxia by targeting mitochondrial dysfunction.

Data from the phase 2 open label extension study investigating subcutaneous injections of nomlabofusp for Friedreich ataxia is expected in the fourth quarter of 2024.

In recent news, Lexeo Therapeutics' gene therapy candidate LX2006 received FDA fast track designation for patients with Friedreich ataxia cardiomyopathy.

A case study of a 52-year-old Korean woman revealed the potential of Nanopore long-read sequencing in diagnosing atypical late-onset ataxia-telangiectasia.

The research grant aims to diversify Friedreich ataxia treatments, addressing challenges in trial design and therapeutic strategies for this condition.

A recent study presented key predictors of survival in patients living with Friedreich ataxia, which led to the creation of a prognostic model for disease management.

These finding suggest that even immune cells in the brain can play a significant role in the progression of neurodegenerative diseases like FA.

A new analysis of phase 3 MOVE-FA trial presented at MDA 2024 revealed promising outcomes for vatiquinone, an oral 15-lipoxygenase inhibitor, in patients with Friedreich ataxia.

Rare Disease Day raises awareness for rare disorders, highlighting challenges, improving detection, and fostering collaboration for treatment advancements.